Intermittent maple syrup urine disease (MSUD) in a mother and her daughter is reported. Fibroblast cultures were studied for branched chain keto acid decarboxylase and results show that the mother has approximately 12% while the daughter has 5% of the normal enzyme activity. Other key members in the family were also studied for enzyme activity. It appears that the child has inherited an abnormal gene from her homozygous mother and another abnormal gene from her heterozygous father. A classification based on the degree of residual enzyme activity and protein tolerance places the mother in grade III and the daughter in grade II category. Classical MSUD, where the enzyme activity is less than 2% of normal, belongs to grade I.
|Original language||English (US)|
|Number of pages||6|
|Journal||Canadian Medical Association Journal|
|Publication status||Published - 1973|
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